E111G (p.Glu111Gly) variant of KRT4 (Keratin, type II cytoskeletal 4)
E111G (p.Glu111Gly) in KRT4 (Keratin, type II cytoskeletal 4) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data and structural context.
E111G (p.Glu111Gly) variant details
- p.Glu111Gly
- 1000Genomes rs202175412
- ExAC rs202175412
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.453
- REVEL 0.33
- CADD 23.80
- PolyPhen-2 0.41
- SIFT 0.00
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the 1KG:MSL population (allele frequency 0.013)
- Structural context available